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[PMID]:27088557
[Au] Autor:Zhai L; Feng L; Xia L; Yin H; Xiang S
[Ad] Endereço:Key Laboratory of Nutrition and Metabolism, Institute for Nutritional Sciences, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, Shanghai 200031, China.
[Ti] Título:Crystal structure of glycogen debranching enzyme and insights into its catalysis and disease-causing mutations.
[So] Source:Nat Commun;7:11229, 2016 Apr 18.
[Is] ISSN:2041-1723
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Glycogen is a branched glucose polymer and serves as an important energy store. Its debranching is a critical step in its mobilization. In animals and fungi, the 170 kDa glycogen debranching enzyme (GDE) catalyses this reaction. GDE deficiencies in humans are associated with severe diseases collectively termed glycogen storage disease type III (GSDIII). We report crystal structures of GDE and its complex with oligosaccharides, and structure-guided mutagenesis and biochemical studies to assess the structural observations. These studies reveal that distinct domains in GDE catalyse sequential reactions in glycogen debranching, the mechanism of their catalysis and highly specific substrate recognition. The unique tertiary structure of GDE provides additional contacts to glycogen besides its active sites, and our biochemical experiments indicate that they mediate its recruitment to glycogen and regulate its activity. Combining the understanding of the GDE catalysis and functional characterizations of its disease-causing mutations provides molecular insights into GSDIII.
[Mh] Termos MeSH primário: Candida glabrata/enzimologia
Proteínas Fúngicas/química
Sistema da Enzima Desramificadora do Glicogênio/química
Estrutura Terciária de Proteína
[Mh] Termos MeSH secundário: Sequência de Aminoácidos
Animais
Sítios de Ligação/genética
Biocatálise
Candida glabrata/genética
Domínio Catalítico
Cristalografia por Raios X
Proteínas Fúngicas/genética
Proteínas Fúngicas/metabolismo
Glicogênio/química
Glicogênio/metabolismo
Sistema da Enzima Desramificadora do Glicogênio/genética
Sistema da Enzima Desramificadora do Glicogênio/metabolismo
Doença de Depósito de Glicogênio Tipo III/enzimologia
Doença de Depósito de Glicogênio Tipo III/genética
Seres Humanos
Modelos Moleculares
Dados de Sequência Molecular
Mutação
Oligossacarídeos/química
Oligossacarídeos/metabolismo
Ligação Proteica
Homologia de Sequência de Aminoácidos
Especificidade por Substrato
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Fungal Proteins); 0 (Glycogen Debranching Enzyme System); 0 (Oligosaccharides); 9005-79-2 (Glycogen)
[Em] Mês de entrada:1609
[Cu] Atualização por classe:170220
[Lr] Data última revisão:
170220
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160419
[St] Status:MEDLINE
[do] DOI:10.1038/ncomms11229


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[PMID]:26984562
[Au] Autor:Lu C; Qiu Z; Sun M; Wang W; Wei M; Zhang X
[Ad] Endereço:McKusick-Zhang Center for Genetic Medicine, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and School of Basic Medcine, Peking Union Medical College, Beijing, China.
[Ti] Título:Spectrum of AGL mutations in Chinese patients with glycogen storage disease type III: identification of 31 novel mutations.
[So] Source:J Hum Genet;61(7):641-5, 2016 Jul.
[Is] ISSN:1435-232X
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Glycogen storage disease type III (GSD III), a rare autosomal recessive disease characterized by hepatomegaly, fasting hypoglycemia, growth retardation, progressive myopathy and cardiomyopathy, is caused by deficiency of the glycogen debranching enzyme (AGL). Direct sequencing of human AGL cDNA and genomic DNA has enabled analysis of the underlying genetic defects responsible for GSD III. To date, the frequent mutations in different areas and populations have been described in Italy, Japan, Faroe Islands and Mediterranean area, whereas little has been performed in Chinese population. Here we report a sequencing-based mutation analysis in 43 Chinese patients with GSD III from 41 families. We identified 51 different mutations, including 15 splice-site (29.4%), 11 small deletions (21.6%), 12 nonsense (23.5%), 7 missense (13.7%), 5 duplication (9.8%) and 1 complex deletion/insertion (2.0%), 31 of which are novel mutations. The most common mutation is c.1735+1G>T (11.5%). The association of AGL missense and small in-frame deletion mutations with normal creatine kinase level was observed. Our study extends the spectrum of AGL mutations and suggests a genotype-phenotype correlation in GSD III.
[Mh] Termos MeSH primário: Sistema da Enzima Desramificadora do Glicogênio/genética
Doença de Depósito de Glicogênio Tipo III/diagnóstico
Doença de Depósito de Glicogênio Tipo III/genética
Mutação
[Mh] Termos MeSH secundário: Adolescente
Alelos
Sequência de Aminoácidos
Grupo com Ancestrais do Continente Asiático/genética
Criança
Pré-Escolar
China
Biologia Computacional/métodos
Análise Mutacional de DNA
Feminino
Frequência do Gene
Estudos de Associação Genética
Genótipo
Seres Humanos
Lactente
Masculino
Fenótipo
Sítios de Splice de RNA
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Glycogen Debranching Enzyme System); 0 (RNA Splice Sites)
[Em] Mês de entrada:1704
[Cu] Atualização por classe:170531
[Lr] Data última revisão:
170531
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160318
[St] Status:MEDLINE
[do] DOI:10.1038/jhg.2016.24


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[PMID]:26924264
[Au] Autor:Melis D; Rossi A; Pivonello R; Del Puente A; Pivonello C; Cangemi G; Negri M; Colao A; Andria G; Parenti G
[Ad] Endereço:Department of Translational Medical Sciences, Section of Pediatrics, Federico II University, Naples, Italy. Electronic address: daniela.melis@unina.it.
[Ti] Título:Reduced bone mineral density in glycogen storage disease type III: evidence for a possible connection between metabolic imbalance and bone homeostasis.
[So] Source:Bone;86:79-85, 2016 May.
[Is] ISSN:1873-2763
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:INTRODUCTION: Glycogen storage disease type III (GSDIII) is an inborn error of carbohydrate metabolism caused by deficient activity of glycogen debranching enzyme (GDE). It is characterized by liver, cardiac muscle and skeletal muscle involvement. The presence of systemic complications such as growth retardation, ovarian polycystosis, diabetes mellitus and osteopenia/osteoporosis has been reported. The pathogenesis of osteopenia/osteoporosis is still unclear. OBJECTIVES: The aim of the current study was to evaluate the bone mineral density (BMD) in GSDIII patients and the role of metabolic and endocrine factors and physical activity on bone status. METHODS: Nine GSDIII patients were enrolled (age 2-20years) and compared to eighteen age and sex matched controls. BMD was evaluated by Dual-emission-X-ray absorptiometry (DXA) and Quantitative ultrasound (QUS). Clinical and biochemical parameters of endocrine system function and bone metabolism were analyzed. Serum levels of the metabolic control markers were evaluated. Physical activity was evaluated by administering the International Physical Activity Questionnaire (IPAQ). RESULTS: GSDIII patients showed reduced BMD detected at both DXA and QUS, decreased serum levels of IGF-1, free IGF-1, insulin, calcitonin, osteocalcin (OC) and increased serum levels of C-terminal cross-linking telopeptide of type I collagen (CTX). IGF-1 serum levels inversely correlated with AST and ALT serum levels. DXA Z-score inversely correlated with cholesterol and triglycerides serum levels and directly correlated with IGF-1/IGFBP3 molar ratio. No difference in physical activity was observed between GSDIII patients and controls. DISCUSSION: Our data confirm the presence of reduced BMD in GSDIII. On the basis of the results, we hypothesized that metabolic imbalance could be the key factor leading to osteopenia, acting through different mechanisms: chronic hyperlipidemia, reduced IGF-1, Insulin and OC serum levels. Thus, the mechanism of osteopenia/osteoporosis in GSDIII is probably multifactorial and we speculate on the factors involved in its pathogenesis.
[Mh] Termos MeSH primário: Densidade Óssea
Osso e Ossos/metabolismo
Doença de Depósito de Glicogênio Tipo III/metabolismo
Doença de Depósito de Glicogênio Tipo III/fisiopatologia
Homeostase
[Mh] Termos MeSH secundário: Absorciometria de Fóton
Adolescente
Biomarcadores/sangue
Calcitonina/sangue
Estudos de Casos e Controles
Criança
Pré-Escolar
Colesterol/sangue
Exercício
Feminino
Doença de Depósito de Glicogênio Tipo III/sangue
Hormônios/sangue
Seres Humanos
Masculino
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Biomarkers); 0 (Hormones); 9007-12-9 (Calcitonin); 97C5T2UQ7J (Cholesterol)
[Em] Mês de entrada:1612
[Cu] Atualização por classe:161230
[Lr] Data última revisão:
161230
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160301
[St] Status:MEDLINE


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[PMID]:26884409
[Au] Autor:Brooks ED; Yi H; Austin SL; Thurberg BL; Young SP; Fyfe JC; Kishnani PS; Sun B
[Ad] Endereço:Division of Medical Genetics and Laboratory Animal Resources, Duke University Medical Center, Durham, North Carolina, USA.
[Ti] Título:Natural Progression of Canine Glycogen Storage Disease Type IIIa.
[So] Source:Comp Med;66(1):41-51, 2016 Feb.
[Is] ISSN:1532-0820
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Glycogen storage disease type IIIa (GSD IIIa) is caused by a deficiency of glycogen debranching enzyme activity. Hepatomegaly, muscle degeneration, and hypoglycemia occur in human patients at an early age. Long-term complications include liver cirrhosis, hepatic adenomas, and generalized myopathy. A naturally occurring canine model of GSD IIIa that mimics the human disease has been described, with progressive liver disease and skeletal muscle damage likely due to excess glycogen deposition. In the current study, long-term follow-up of previously described GSD IIIa dogs until 32 mo of age (n = 4) and of family-owned GSD IIIa dogs until 11 to 12 y of age (n = 2) revealed that elevated concentrations of liver and muscle enzyme (AST, ALT, ALP, and creatine phosphokinase) decreased over time, consistent with hepatic cirrhosis and muscle fibrosis. Glycogen deposition in many skeletal muscles; the tongue, diaphragm, and heart; and the phrenic and sciatic nerves occurred also. Furthermore, the urinary biomarker Glc4, which has been described in many types of GSD, was first elevated and then decreased later in life. This urinary biomarker demonstrated a similar trend as AST and ALT in GSD IIIa dogs, indicating that Glc4 might be a less invasive biomarker of hepatocellular disease. Finally, the current study further demonstrates that the canine GSD IIIa model adheres to the clinical course in human patients with this disorder and is an appropriate model for developing novel therapies.
[Mh] Termos MeSH primário: Doenças do Cão/metabolismo
Doença de Depósito de Glicogênio Tipo III/veterinária
[Mh] Termos MeSH secundário: Fatores Etários
Animais
Biomarcadores/sangue
Biomarcadores/urina
Modelos Animais de Doenças
Progressão da Doença
Doenças do Cão/patologia
Cães
Feminino
Glicogênio/metabolismo
Doença de Depósito de Glicogênio Tipo III/metabolismo
Doença de Depósito de Glicogênio Tipo III/patologia
Hepatomegalia/metabolismo
Hepatomegalia/patologia
Hepatomegalia/veterinária
Fígado/metabolismo
Fígado/patologia
Cirrose Hepática/metabolismo
Cirrose Hepática/patologia
Cirrose Hepática/veterinária
Masculino
Músculo Esquelético/metabolismo
Músculo Esquelético/patologia
Doenças Musculares/metabolismo
Doenças Musculares/patologia
Doenças Musculares/veterinária
Especificidade da Espécie
Urolitíase/metabolismo
Urolitíase/patologia
Urolitíase/veterinária
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Biomarkers); 9005-79-2 (Glycogen)
[Em] Mês de entrada:1612
[Cu] Atualização por classe:170220
[Lr] Data última revisão:
170220
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160218
[St] Status:MEDLINE


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[PMID]:26575860
[Au] Autor:Herlin B; Laforet P; Labrune P; Fournier E; Stojkovic T
[Ad] Endereço:AP-HP, G-H Pitié-Salpêtrière, Institut de Myologie, centre de référence des maladies neuromusculaires Paris Est, 75013, Paris, France.
[Ti] Título:Peripheral neuropathy in glycogen storage disease type III: Fact or myth?
[So] Source:Muscle Nerve;53(2):310-2, 2016 Feb.
[Is] ISSN:1097-4598
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:INTRODUCTION: The aim of this study was to assess whether peripheral neuropathy is a feature of glycogen storage disease type IIIa (GSD IIIa) in adult patients. METHODS: Medical records of a cohort of adult GSD IIIa patients who underwent electromyography (EMG) and nerve conduction studies (NCS) were reviewed, and the results were correlated with physical examination findings. RESULTS: Sixteen patients underwent EMG and NCS; 4 complained of exercise intolerance, 1 of foot paresthesia, and 11 of muscle weakness (3 proximal, 8 distal). None of the patients had sensory deficits on clinical examination. All motor and sensory conduction velocities and sensory amplitudes were within reference ranges. EMG showed myopathic motor unit potentials in 15 of the 16 patients. CONCLUSIONS: Based on the clinical examination and the NCS and EMG results, we did not identify any peripheral nerve involvement in our adult patients diagnosed with GSD III.
[Mh] Termos MeSH primário: Doença de Depósito de Glicogênio Tipo III/complicações
Doenças do Sistema Nervoso Periférico/etiologia
[Mh] Termos MeSH secundário: Potenciais de Ação/fisiologia
Adolescente
Adulto
Creatina Quinase/sangue
Eletromiografia
Feminino
Doença de Depósito de Glicogênio Tipo III/sangue
Seres Humanos
Masculino
Meia-Idade
Músculo Esquelético/fisiopatologia
Condução Nervosa/fisiologia
Nervos Periféricos/fisiopatologia
Doenças do Sistema Nervoso Periférico/diagnóstico
Doenças do Sistema Nervoso Periférico/patologia
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
EC 2.7.3.2 (Creatine Kinase)
[Em] Mês de entrada:1605
[Cu] Atualização por classe:160118
[Lr] Data última revisão:
160118
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:151118
[St] Status:MEDLINE
[do] DOI:10.1002/mus.24977


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[PMID]:26437929
[Au] Autor:Verbeek RJ; Sentner CP; Smit GP; Maurits NM; Derks TG; van der Hoeven JH; Sival DA
[Ad] Endereço:Department of Neurology, Beatrix Children's Hospital, University Medical Centre Groningen, University of Groningen, The Netherlands.
[Ti] Título:Muscle Ultrasound in Patients with Glycogen Storage Disease Types I and III.
[So] Source:Ultrasound Med Biol;42(1):133-42, 2016 Jan.
[Is] ISSN:1879-291X
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:In glycogen storage diseases (GSDs), improved longevity has resulted in the need for neuromuscular surveillance. In 12 children and 14 adults with the "hepatic" (GSD-I) and "myopathic" (GSD-III) phenotypes, we cross-sectionally assessed muscle ultrasound density (MUD) and muscle force. Children with both "hepatic" and "myopathic" GSD phenotypes had elevated MUD values (MUD Z-scores: GSD-I > 2.5 SD vs. GSD-III > 1 SD, p < 0.05) and muscle weakness (GSD-I muscle force; p < 0.05) of myopathic distribution. In "hepatic" GSD-I adults, MUD stabilized (GSD-I adults vs. GSD-I children, not significant), concurring with moderate muscle weakness (GSD-I adults vs. healthy matched pairs, p < 0.05). In "myopathic" GSD-III adults, MUD increased with age (MUD-GSD III vs. age: r = 0.71-0.83, GSD-III adults > GSD-III children, p < 0.05), concurring with pronounced muscle weakness (GSD-III adults vs. GSD-I adults, p < 0.05) of myopathic distribution. Children with "hepatic" and "myopathic" GSD phenotypes were both found to have myopathy. Myopathy stabilizes in "hepatic" GSD-I adults, whereas it progresses in "myopathic" GSD-III adults. Muscle ultrasonography provides an excellent, non-invasive tool for neuromuscular surveillance per GSD phenotype.
[Mh] Termos MeSH primário: Doença de Depósito de Glicogênio Tipo III/fisiopatologia
Doença de Depósito de Glicogênio Tipo I/fisiopatologia
Músculo Esquelético/diagnóstico por imagem
Músculo Esquelético/fisiopatologia
[Mh] Termos MeSH secundário: Adulto
Criança
Pré-Escolar
Estudos Transversais
Feminino
Doença de Depósito de Glicogênio Tipo I/diagnóstico por imagem
Doença de Depósito de Glicogênio Tipo III/diagnóstico por imagem
Seres Humanos
Masculino
Debilidade Muscular/diagnóstico por imagem
Debilidade Muscular/fisiopatologia
Ultrassonografia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1609
[Cu] Atualização por classe:161126
[Lr] Data última revisão:
161126
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:151007
[St] Status:MEDLINE


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[PMID]:26697579
[Au] Autor:Oterdoom LH; Verweij KE; Biermann K; Langeveld M; van Buuren HR
[Ad] Endereço:Department of Gastroenterology and Hepatology, Center for Lysosomal and Metabolic Diseases, Erasmus Medical Center, Rotterdam, The Netherlands.
[Ti] Título:Hepatocellular Adenomas and Carcinoma in Asymptomatic, Non-Cirrhotic Type III Glycogen Storage Disease.
[So] Source:J Gastrointestin Liver Dis;24(4):515-8, 2015 Dec.
[Is] ISSN:1842-1121
[Cp] País de publicação:Romania
[La] Idioma:eng
[Ab] Resumo:Glycogen storage diseases (GSDs) are a group of inherited metabolic disorders characterized by accumulation of abnormal glycogen in muscle or liver or both. Specific hepatic complications include liver adenomas and hepatocellular carcinoma (HCC). Hepatocellular carcinomas described in GSD type I are often due to the degeneration of liver adenomas. Hepatocellular carcinoma in GSD type III, however, is rare and is thought to be associated with underlying cirrhosis.We present the case of a 63-year old male who was admitted for assessment of suitability for liver transplantation because of development of recurrent HCC in the presence of multiple liver adenomas. A diagnosis of GSD type III was made in this patient without underlying cirrhosis or metabolic disturbances resembling GSD. This case report is the first documentation of HCC development in an asymptomatic, non-cirrhotic patient with GSD type III. This raises the possibility that in GSD type III, the adenoma - carcinoma sequence can occur as it is also seen in GSD type I. Physicians taking care of GSD patients should be aware of this and some form of surveillance for cirrhosis and HCC should be considered. Also male patients with adenomas should have a thorough workup to reveal any underlying disease such as GSD.
[Mh] Termos MeSH primário: Adenoma de Células Hepáticas/etiologia
Carcinoma Hepatocelular/etiologia
Doença de Depósito de Glicogênio Tipo III/complicações
Neoplasias Hepáticas/etiologia
[Mh] Termos MeSH secundário: Adenoma de Células Hepáticas/diagnóstico
Adenoma de Células Hepáticas/cirurgia
Biópsia
Carcinoma Hepatocelular/diagnóstico
Carcinoma Hepatocelular/cirurgia
Ablação por Cateter
Doença de Depósito de Glicogênio Tipo III/diagnóstico
Doença de Depósito de Glicogênio Tipo III/cirurgia
Hepatectomia
Seres Humanos
Neoplasias Hepáticas/diagnóstico
Neoplasias Hepáticas/cirurgia
Transplante de Fígado
Masculino
Meia-Idade
Recidiva Local de Neoplasia
Reoperação
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1611
[Cu] Atualização por classe:161230
[Lr] Data última revisão:
161230
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:151224
[St] Status:MEDLINE
[do] DOI:10.15403/jgld.2014.1121.244.had


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[PMID]:26651310
[Au] Autor:Allegrini D; Autelitano A; Fogagnolo P; De Cillà S; Piozzi E; Mazza M; Paci S; Montanari C; Riva E; Rossetti L
[Ad] Endereço:Eye Clinic, San Paolo Hospital, University of Milan, Milan. Electronic address: davideallegrini@yahoo.it.
[Ti] Título:Lens opacities in glycogenoses type I and III.
[So] Source:Can J Ophthalmol;50(6):480-4, 2015 Dec.
[Is] ISSN:1715-3360
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: The glycogen storage diseases (GSD) or glycogenoses comprise several inherited diseases caused by abnormalities of the enzymes that regulate the synthesis or degradation of glycogen. This report presents lens opacities not previously described in patients with type I or III GSD. PARTICIPANTS: Eleven patients with type I and III GSD. METHODS: We examined a series of 11 consecutive patients (aged 13-40 years) with type I and III GSD by full ophthalmologic examination. RESULTS: We found changes of the lens on 7 of 11 patients (aged 23-40 years) with glycogenoses I and III. In 6 patients, the lens showed multiple, bilateral, punctate, and peripheral opacities; only 1 patient showed a posterior subcapsular opacity in both eyes. We did not observe changes in the cornea and the posterior pole correlated to the accumulation of glycogen and lipids. CONCLUSIONS: In this series, we found that 60% of patients with type I and III GSD show lens opacities. These opacities are bilateral, peripheral, multiple, and small; they do not give any visual disturbance. Considering that subjects with age ranging from 13 to 23 years had no lens opacities, we postulate that they could progressively develop over time because of exposure to recurrent attacks of hypoglycemia, which lead to a progressive depletion of hexokinase.
[Mh] Termos MeSH primário: Catarata/etiologia
Doença de Depósito de Glicogênio Tipo III/complicações
Doença de Depósito de Glicogênio Tipo I/complicações
[Mh] Termos MeSH secundário: Adolescente
Adulto
Catarata/diagnóstico
Catarata/fisiopatologia
Creatina Quinase/sangue
Feminino
Doença de Depósito de Glicogênio Tipo I/sangue
Doença de Depósito de Glicogênio Tipo III/sangue
Seres Humanos
Insulina/sangue
Ácido Láctico/sangue
Lipídeos/sangue
Masculino
Acuidade Visual/fisiologia
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Insulin); 0 (Lipids); 33X04XA5AT (Lactic Acid); EC 2.7.3.2 (Creatine Kinase)
[Em] Mês de entrada:1607
[Cu] Atualização por classe:161013
[Lr] Data última revisão:
161013
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:151215
[St] Status:MEDLINE


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[PMID]:26252094
[Au] Autor:Guo L; Lin W; Zhang Z; Zhao X; Zhang S; Cai X; Zhou Q; Song Y
[Ad] Endereço:Department of Pediatrics, The First Affiliated Hospital, Jinan University, Guangzhou, Guangdong 510630, P. R. China. songyuanzong@vip.tom.com.
[Ti] Título:[Analysis of clinical features and AGL gene mutations in a family with glycogen storage disease type IIIa].
[So] Source:Zhonghua Yi Xue Yi Chuan Xue Za Zhi;32(4):502-5, 2015 Aug.
[Is] ISSN:1003-9406
[Cp] País de publicação:China
[La] Idioma:chi
[Ab] Resumo:OBJECTIVE: To investigate the clinical features and AGL gene mutations in a family with glycogen storage disease type IIIa (GSD IIIa). METHODS: Clinical data for diagnosis, treatment and follow-up of a sick child with GSD III was collected and analyzed. Genomic DNA was extracted from the peripheral blood samples from the patient and his parents. Polymerase chain reaction and direct DNA sequencing were utilized to analyze all of the exons of the AGL gene. RESULTS: The genotype of the child was found to be c.3710_3711delTA/IVS14+1G>T. The former was a maternally-inherited mutation, which has not been reported previously. The latter was an abnormal splice-site mutation inherited from the father. CONCLUSION: Based on its clinical and molecular evidences, the patient was diagnosed as GSD IIIa in conjunction with retrobular optic neuritis.
[Mh] Termos MeSH primário: Sistema da Enzima Desramificadora do Glicogênio/genética
Doença de Depósito de Glicogênio Tipo III/enzimologia
Doença de Depósito de Glicogênio Tipo III/genética
[Mh] Termos MeSH secundário: Adulto
Grupo com Ancestrais do Continente Asiático/genética
Sequência de Bases
Pré-Escolar
China
Feminino
Sistema da Enzima Desramificadora do Glicogênio/metabolismo
Seres Humanos
Masculino
Dados de Sequência Molecular
Linhagem
Mutação Puntual
[Pt] Tipo de publicação:ENGLISH ABSTRACT; JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Glycogen Debranching Enzyme System); EC 3.2.1.33 (amylo-1,6-glucosidase)
[Em] Mês de entrada:1511
[Cu] Atualização por classe:150808
[Lr] Data última revisão:
150808
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:150808
[St] Status:MEDLINE
[do] DOI:10.3760/cma.j.issn.1003-9406.2015.04.011


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[PMID]:26067541
[Au] Autor:Gershen LD; Prayson BE; Prayson RA
[Ad] Endereço:Lerner College of Medicine, Cleveland Clinic, Case Western Reserve University, Cleveland, OH, USA.
[Ti] Título:Pathological characteristics of glycogen storage disease III in skeletal muscle.
[So] Source:J Clin Neurosci;22(10):1674-5, 2015 Oct.
[Is] ISSN:1532-2653
[Cp] País de publicação:Scotland
[La] Idioma:eng
[Ab] Resumo:We report a 25-year-old man with glycogenosis III who presented with a progressive 2 year history of fatigue, hand stiffness and cramping. The glycogenoses are a group of rare metabolic disorders which develop as a result of deficiencies in various enzymes involved in the metabolism of glycogen. Some, but not all, glycogenoses, may result in skeletal muscle pathology. Among those that result in vacuolar myopathic changes, glycogen storage disease III or debrancher enzyme deficiency, an autosomal recessive condition, is less commonly encountered than acid maltase (Type II) and myophosphorylase (Type V) deficiencies. Many patients with debrancher enzyme deficiency also have liver involvement. The neurological examination of our patient showed mild proximal limb weakness and decreased reflexes. He had elevated creatine kinase and aldolase levels. He also demonstrated some elevations in his liver function tests, suggesting possible liver involvement. A skeletal muscle biopsy demonstrated vacuolar myopathic changes (acid phosphatase negative) accompanied by focal endomysial fibrosis and chronic inflammation. An ultrastructural examination showed that his vacuoles were filled with glycogen material. An enzyme assay of skeletal muscle tissue showed a significant decrease in debrancher enzyme activity (11% of normal). We review the typical clinical presentation of patients with glycogenosis III and discuss the differential diagnoses of glycogenosis III versus the other glycogenoses resulting in vacuolar myopathy.
[Mh] Termos MeSH primário: Doença de Depósito de Glicogênio Tipo III/diagnóstico
Músculo Esquelético/patologia
[Mh] Termos MeSH secundário: Adulto
Doença de Depósito de Glicogênio Tipo III/metabolismo
Seres Humanos
Masculino
Músculo Esquelético/metabolismo
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1605
[Cu] Atualização por classe:150911
[Lr] Data última revisão:
150911
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:150613
[St] Status:MEDLINE



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